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Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent adva...

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Detalhes bibliográficos
Main Authors: Mabb, Angela M., Judson, Matthew C., Zylka, Mark J., Philpot, Benjamin D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3116240/
https://ncbi.nlm.nih.gov/pubmed/21592595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tins.2011.04.001
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